Scarring and stiffening of the tissue between the lungs' air sacs. The genetics of the largest subtype, idiopathic pulmonary fibrosis, keeps returning to a mucus gene and a telomere gene, and this page's four variants are newer loci from the same large study, in different biology again.
The lungs move oxygen into the blood through a thin layer of tissue between millions of tiny air sacs. In interstitial lung disease, that tissue becomes scarred and stiff, and breathing becomes progressively harder as gas exchange is impaired. It covers more than 200 specific conditions; the largest and best-studied subtype is idiopathic pulmonary fibrosis (IPF) — "idiopathic" because, despite the scarring being visible, no cause is identified — which typically worsens over years and has no cure, only treatments that slow it.
The genome-wide association study behind this page looked at 1,616 cases of fibrotic interstitial pneumonias — the family of diseases IPF belongs to — against 4,683 controls, with replication in a further 876 cases and 1,890 controls. It reconfirmed the two loci that already dominate this disease's genetics: MUC5B, which makes a mucus protein, and TERT, part of the machinery that maintains the protective caps on the ends of chromosomes. Neither is an obvious candidate for a scarring lung disease taken alone, and both have now been found independently so many times that the association is not in question, even though the mechanism linking mucus and telomere biology to lung scarring is still debated.
Alongside that confirmation, the study identified seven newly associated loci. This page holds four of them: rs1278769 near ATP11A, rs2609255 near FAM13A, rs11191865 near OBFC1, and rs1981997 near MAPT. The study's own reading of these new loci is that they point toward genes involved in host defence, cell-to-cell adhesion, and DNA repair — three different kinds of biology from the mucus and telomere genes that dominate the picture so far, which is the paper's own basis for saying more than one mechanism likely contributes to this disease.
OBFC1 is itself involved in telomere maintenance, so it may sit closer to the TERT story than the others; FAM13A has since turned up in other lung-function genetics on this site as well.
2026-07-09 · Genome-wide association study of idiopathic pulmonary fibrosis susceptibility using clinically curated European ancestry datasets. European Respiratory Journal. 2026. DOI:10.1183/13993003.00506-2026
Idiopathic pulmonary fibrosis (IPF) GWAS have historically relied partly on electronic-health-record-based case definitions, which can be noisy. This study used clinically curated European ancestry datasets specifically to sharpen the phenotype, analyzing 5,159 IPF cases against 27,459 controls. It reconfirmed known signals at extreme significance -- MUC5B's famous promoter variant rs35705950 reached P=1.39x10^-514, alongside TERT, DSP and IL9RP3 -- and found 37 total genome-wide significant signals, 10 of them new, 3 of which were also replicated in an independent GBMI cohort. The strongest new signal, rs112271207 (3p25.1), sits near LSM3, LINC01267 and SLC6A6; SLC6A6 encodes a taurine transporter previously implicated in kidney fibrosis in diabetic mice and retinal/cardiac disease in a taurine-deficiency human family, giving it a biologically plausible (if not yet proven) role in lung fibrosis via taurine's antioxidant function. A second new signal, rs9426886 (1q22), is intronic in TRIM46. This site's interstitial lung disease page carries 10 variants; none of SLC6A6, TRIM46, LSM3, MUC5B, TERT or DSP are currently among them, despite MUC5B and TERT being among the best-established genes in the field generally.
Diagnosis rests on high-resolution CT imaging of the chest, often combined with lung function testing and, in uncertain cases, a lung biopsy — reviewed by a multidisciplinary team, because distinguishing IPF from other causes of scarring changes treatment. Two drugs, pirfenidone and nintedanib, are approved to slow progression in IPF; neither reverses existing scarring, and treatment decisions rest on that imaging and function testing, not on a genotype.
What gets this looked for. A dry cough and breathlessness on exertion that build gradually over months, sometimes with fine crackling sounds heard on the chest with a stethoscope, are what typically prompt the CT scan that finds this. Nothing on this page detects the disease, and nothing here should delay that evaluation.
A minority of pulmonary fibrosis is familial, and some families carry rare, high-penetrance mutations — often in telomere-related genes such as TERT itself, or in surfactant-protein genes — that are a different, much stronger genetic finding than the common variants on this page. A family history of pulmonary fibrosis is worth raising with a doctor; the common variants here do not answer that question.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Interstitial Lung Disease comes down to these specific, well-studied positions — not a diagnosis.
PFKP · rs79441543
See detailed info →FUT10 · rs114571830
See detailed info →STK38 · rs145855729
See detailed info →SORCS3 · rs74361312
See detailed info →GFPT2 · rs190432524
See detailed info →FLJ35282 · rs7852363
See detailed info →The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 10 of 10 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
No. The four variants here each shift risk by a fraction and none of them detects the disease. A CT scan of the chest and lung function testing, often with specialist review, is what actually diagnoses it.
Because they are the two most consistently replicated findings in this disease's genetics, even though neither is an obvious cause of scarring on its own. This page's four variants are different loci again, pointing at host defence, cell adhesion and DNA repair — the study's own reading is that more than one mechanism is probably involved.
Not directly. Some families carry rare, high-penetrance mutations — often in telomere or surfactant-protein genes — that are a stronger and different genetic finding from the common variants here. That is worth raising with a doctor rather than reading off this page.
No. Pirfenidone and nintedanib are approved to slow progression in idiopathic pulmonary fibrosis, and the decision to use them rests on imaging and lung function testing, not on any variant discussed here.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.